| 발표일자: |
2019년 4월 5일(금)~7(일) |
| 발표번호: |
P(e-poster)-035 |
| 발표장소: |
벡스코 전시장 1홀 내 |
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| 상염색체 열성 망막색소변성과 골격계 이상을 가진 한국인 환자에서 whole exome sequencing을 이용한CFAP410 돌연변이의 확인 |
| (1) 성균관대학교 의과대학 삼성서울병원 안과학교실, (2) 삼성유전체연구소, (3) 성균관대학교 의과대학 분자세포생물학교실, (4) 성균관대학교 의과대학 삼성서울병원 신경과학교실 |
| 신동훈(1), 김상진(1), 김아름(2), 박웅양(2,3). 김병준(4) |
| 본문 : Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal dystrophy characterized by visible retinal pigment deposits and diffuse progressive dysfunction of photoreceptors. Patients with RP show progressive impairment of night vision and loss of peripheral vision, which often progresses to blindness. The CFAP410 gene (also known as C21orf2) encodes a ciliary protein and plays a role in cilia formation and/or maintenance. CFAP410 mutations have been identified as genetic cause of axial spondylometaphyseal dysplasia, Jeune’s asphyxiating thoracic dystrophy, and retinal degeneration. Herein, we aimed to report a case of CFAP410 mutation in a Korean patient with autosomal recessive RP with skeletal defects (pectus carinatum and short stature). Ophthalmic examinations of a 15-yr old female complaining of decreased visual acuity and nystagmus revealed bilateral peripheral retinal degenerations compatible with RP. She underwent surgical correction for pectus carinatum at the age of 3. Whole exome sequencing revealed a compound heterozygous mutation in CFAP410 (p.V111M and p.Y107H), which have been recently reported in a Japanese patient with autosomal recessive RP and mild chest deformity. This is the first case of a CFAP410 mutation p.V111M and p.Y107H causing autosomal recessive RP and pectus carinatum in a Korean patient. |
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